Changes to This Summary (07/18/2014)
The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.
Added Zhang et al. as a reference 8.
Revised text to state that less than one-half of keratocystic odontogenic tumors from individuals with basal cell nevus syndrome show loss of heterozygosity of PTCH (cited Suzuki et al. as reference 109).
Added level of evidence 5.
Revised Table 3, Hereditary Syndromes Associated with Squamous Cell Carcinoma of the Skin, to include SLC45A2 as another name for MATP/OCA4, a gene associated with oculocutaneous albinism.
Added text to state that individuals with XPA mutations in the DNA binding region may have a more severe presentation of xeroderma pigmentosum that includes neurological findings (cited Amr et al. as reference 72).
Added text to state that oculocutaneous albinism type 1 accounts for about one-half of cases in individuals of Caucasian ancestry (cited Hutton et al. as reference 84).
Added text to state that a study of 61 albinism patients identified 22 novel mutations, including 14 in TYR, 5 in OCA2, 2 in SLC45A2, and 1 in TYRP1 (cited Simeonov et al. as reference 87). Also added text to state that SLC45A2 is found in 24% of oculocutaneous albinism cases in Japan, making it the most common type of albinism among Japanese individuals with identifiable mutations (cited Inagaki et al. as reference 88). Also added that a study of 22 individuals of Italian ancestry without mutations in TYR, OCA2, or TYRP1 found 5 individuals with biallelic mutations in SLC45A2, 4 of whom met clinical criteria for a diagnosis of oculocutaneous albinism (cited Mauri et al. as reference 89).
This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ NCI's Comprehensive Cancer Database pages.